Eymard B
Institut de myologie Hôpital de La Pitié-La Salpêtrière 75651 Paris.
Rev Prat. 2001 Feb 15;51(3):262-9.
In the last years, the molecular approach of the muscular dystrophies with mutated gene and deficient protein identification has completely renewed the knowledge of these myopathies. The combination of the following data 1. clinical phenotype, transmission mode; 2. evidence of muscle protein expression deficiency by immunocytochemical assay; and 3. gene mutation allow an unquestionable identification of the muscle disease. A new dystrophy classification has been established: thus 3 groups of autosomal recessive dystrophies have been isolated on molecular grounds, calpainopathies, sarcoglycanopathies, dysferlinopathies; each of these corresponding to a particular clinical phenotype. A suitable genetic council is now possible in most dystrophies. Finally, therapeutical prospects using "molecular repairing" may be now considered.
在过去几年中,通过鉴定突变基因和缺陷蛋白对肌营养不良症进行分子研究的方法,彻底更新了我们对这些肌病的认识。以下几方面数据的结合:1. 临床表型、遗传方式;2. 通过免疫细胞化学分析证明肌肉蛋白表达缺陷;3. 基因突变,使得我们能够明确无误地识别肌肉疾病。一种新的肌营养不良症分类已经确立:基于分子依据,现已分离出3组常染色体隐性肌营养不良症,即钙蛋白酶病、肌聚糖病、肌膜蛋白病;其中每一种都对应一种特定的临床表型。现在,针对大多数肌营养不良症,进行合适的遗传咨询已成为可能。最后,现在可以考虑利用“分子修复”的治疗前景。